Canonical Allele Identifier: CA15898030
Gene: SHMT1 HGNC NCBI

Linked Data

dbSNP Id: rs9909104

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18344707T>C , CM000679.2:g.18344707T>C GRCh38
NC_000017.10:g.18248021T>C , CM000679.1:g.18248021T>C GRCh37
NC_000017.9:g.18188746T>C NCBI36
NG_017111.1:g.23836A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000316694.8:c.519+2789A>G MANE Select ENSP00000318868.3:n.519+2789A>G
ENST00000316694.7:c.519+2789A>G ENSP00000318868.3:n.519+2789A>G
ENST00000352886.10:c.105+2789A>G ENSP00000345881.7:n.105+2789A>G
ENST00000354098.7:c.519+2789A>G ENSP00000318805.3:n.519+2789A>G
ENST00000579558.5:n.668+2789A>G
ENST00000580002.5:c.*16+2789A>G ENSP00000462043.1:n.*16+2789A>G
NM_001281786.1:c.105+2789A>G NP_001268715.1:n.105+2789A>G
NM_004169.4:c.519+2789A>G NP_004160.3:n.519+2789A>G
NM_148918.2:c.519+2789A>G NP_683718.1:n.519+2789A>G
XM_005256767.2:c.519+2789A>G XP_005256824.1:n.519+2789A>G
XM_011523992.1:c.519+2789A>G XP_011522294.1:n.519+2789A>G
XM_005256767.3:c.519+2789A>G XP_005256824.1:n.519+2789A>G
XM_011523992.3:c.519+2789A>G XP_011522294.1:n.519+2789A>G
XM_017024957.1:c.519+2789A>G XP_016880446.1:n.519+2789A>G
XM_017024958.1:c.519+2789A>G XP_016880447.1:n.519+2789A>G
XM_024450887.1:c.519+2789A>G XP_024306655.1:n.519+2789A>G
XM_024450888.1:c.105+2789A>G XP_024306656.1:n.105+2789A>G
XM_024450889.1:c.105+2789A>G XP_024306657.1:n.105+2789A>G
XM_024450890.1:c.105+2789A>G XP_024306658.1:n.105+2789A>G
NM_004169.5:c.519+2789A>G MANE Select NP_004160.3:n.519+2789A>G
NM_001281786.2:c.105+2789A>G NP_001268715.1:n.105+2789A>G
NM_148918.3:c.519+2789A>G NP_683718.1:n.519+2789A>G